Table 1.

YME1L1 mitochondriopathy phenotype.

DOI: http://dx.doi.org/10.7554/eLife.16078.005

Pedigree ID (gender)			II.5 (f)	II.8 (f)	II.9 (m)	II.11 (f)
Age at last assessment (y)			15.8	12.3	10.3	5.2
Category	Feature	HPO
Inheritance
			AR	AR	AR	AR
Growth
Height	Short stature SD;%	0004322	+ -2.19; 1	+ -2.09; 2	+ -1.89; 3	- 0.38; 35
Weight	Low weight SD;%	0004325	+ -2.8; <1	- -1.18; 12	- 0.07; 53	- -1.35; 12
Neonatal period
	Neonatal asphyxia	0012768	-	-	-	+
Head and Neck
Head	Microcephaly	0000252	-	-	+	+
	Macrocephaly	0000256	+	-	-	-
Face	Midface retrusion	0011800	-	-	+	+
	Congenital facial diplegia	0007188	+	-	-	+
Ears	Hearing impairment	0000365	-	+	+	+
	Sensorineural hearing impairment	0000407	n.a.	n.a.	+	+
	Macrotia	0000400	-	+	+	-
Eyes	Pigmentary retinopathy	0000580	+	-	-	-
	Optic nerve hypoplasia	0000609	+	+	+	+
	Cherry red spot of the macula	0010729	-	-	-	+
	Strabismus	0000486	-	-	+	+
	Hypermetropia	0000540	-	-	-	+
	Myopia	0000545	+	+	+	-
	Amblyopia	0000646	-	+	+	+
	Abnormality of visual evoked potentials	0000649	n.a.	-	+	+
Abdomen
Gastro-intestinal	Constipation (in infancy)	0002019	+	n.a.	+	+
Spleen	Splenomegaly	0001744	+	-	+	-
Skeletal
Feet	Bilateral talipes equinovarus	0001776	-	-	-	+
Muscle, soft tissue
	Increased variability in muscle fiber diameter	0003557	+	n.a.	n.a.	n.a.
Neurologic
CNS	Hypotonia, neonatal, generalized	0008935	-	-	-	+
	Infantile muscular hypotonia	0008947	-	-	-	+
	Global developmental delay (onset, months)	0001263	+	+	+	+ (6)
	Motor delay	0001270	+	+	+	+
	Gait apraxia	0010521	-	-	-	+
	Athetosis	0002305	-	-	-	+
	Intellectual disability, moderate; (IQ)	0002342	+ (48)	n.a.	n.a.	+ (39)
	Incomprehensible speech	0002546	n.a.	-	-	+
	Poor speech	0002465	n.a.	-	+	-
	Absent speech	0001344	-	+	-	-
	Seizures (onset, months)	0001250	-	-	-	+ (6)
	Dysmetria	0001310	+	+	+	-
	Ataxia	0001251	+	+	+	-
	Brain atrophy	0012444	-	-	-	+
	Ventriculomegaly	0002119	-	-	-	+
	Delayed CNS myelination	0002188	+	-	-	-
	Abnormality of the cerebral white matter	0002500	+	+	+	+
	Abnormality of the basal ganglia	0002134	-	-	+	-
	Cerebellar hypoplasia (progressive)	0001321	+	-	-	+
	EEG with focal sharp waves	0011196	n.a.	-	+	-
	Abnormal auditory evoked potentials	0006958	n.a.	n.a.	+	+
PNS	Decreased sensory nerve conduction velocity	0003448	-	+	n.a.	-
Behavioural Psychiatric	Hyperactivity	0000752	-	+	-	-
	Attention deficit hyperactivity disorder	0007018	-	-	-	+
	Stereotypical body rocking	0012172	-	-	-	+
Laboratory anomalies
	Mildly elevated creatine phosphokinase	0008180	-	-	-	+